Yes, you heard me correctly, the Maple Syrup Urine Disease.
I didn’t believe it till I actually googled the disease and found an NIH website describing it here.
This disease is a hereditary metabolism disorder that results in the inability to breakdown certain parts of proteins. As a result, the urine of affected individuals will smells like…yes you guessed it…maple syrup. That’s pretty awesome.
Every month, we here at The Band choose to highlight a specific word or condition that we want to throw into the spotlight and talk about. For April, we’ve chosen to spotlight the word - and the act - “donation.” What do you donate? Are you a transplant parent? Do you have a transplant story for us? Have you donated blood, organ, or tissues? What about time? Or items for charity?
We want to know what you’ve donated in your life.
It’s time to band back together for donation!
I’ve been told that if you pray for patience, God may put something in your life that tests your patience.
Maple syrup urine disease (MSUD), which gets its name from the odor of the affected baby’s urine, is a serious metabolic disorder that affects the way amino acids isoleucine, leucine, and valine are broken down. When these amino acids are not used to build up proteins, they are broken down and used for energy by an enzyme complex (enzymes are typically proteins) called branched-chain α-ketoacid dehydrogenase complex. Individuals with MSUD have a mutation for one of the proteins that make up this complex, resulting in a high build up of these amino acids in the body that can degenerate brain cells or even lead to death if not treated. MSUD is a recessive disorder and it generally occurs in 1 in 180,000 babies, but in some populations such as children of Amish, Mennonite, or Jewish descent the prevalence is higher. Symptoms for the disease may occur within 3-4 days after birth: baby will have sweet-smelling urine, exhibit loss of appetite, or be fussy. Therapy involves monitoring and restricting the patient’s diet to prevent brain damage. That means babies have to take a special formula that doesn’t contain isoleucine, leucine, or valine and adults with the disease must avoid foods high in protein like meat, nuts, and eggs.